Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil

• Published in: Memórias do Instituto Oswaldo Cruz Vol. 109; no. 3; pp. 279 - 288
• Main Authors: Castellucci, Léa Cristina, de Almeida, Lucas Frederico, Jamieson, Sarra Elisabeth, Fakiola, Michaela, de Carvalho, Edgar Marcelino, Blackwell, Jenefer Mary
• Format: Journal Article
• Language: English
• Published: Brazil Fundação Oswaldo Cruz, Fiocruz 01-06-2014; Instituto Oswaldo Cruz, Ministério da Saúde; Fundação Oswaldo Cruz (FIOCRUZ)
• Subjects: American cutaneous leishmaniasis; Animals; Brazil - epidemiology; Endemic Diseases; genetic biomarkers; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Humans; Leishmaniasis, Cutaneous - epidemiology; Leishmaniasis, Cutaneous - genetics; Mice; PARASITOLOGY; Review; TROPICAL MEDICINE; wound healing genes; Brazil; wound healing genes; genetic biomarkers; American cutaneous leishmaniasis
• ISSN: 1678-8060; 0074-0276; 1678-8060
• DOI: 10.1590/0074-0276140028

American cutaneous leishmaniasis (ACL) is a vector-transmitted
infectious disease with an estimated 1.5 million new cases per year. In
Brazil, ACL represents a significant public health problem, with
approximately 30,000 new reported cases annually, representing an
incidence of 18.5 cases per 100,000 inhabitants. Corte de Pedra is in a
region endemic for ACL in the state of Bahia (BA), northeastern Brazil,
with 500-1,300 patients treated annually. Over the last decade,
population and family-based candidate gene studies were conducted in
Corte de Pedra, founded on previous knowledge from studies on mice and
humans. Notwithstanding limitations related to sample size and power,
these studies contribute important genetic biomarkers that identify
novel pathways of disease pathogenesis and possible new therapeutic
targets. The present paper is a narrative review about ACL
immunogenetics in BA, highlighting in particular the interacting roles
of the wound healing gene FLI1 with interleukin-6 and genes SMAD2 and
SMAD3 of the transforming growth factor beta signalling pathway. This
research highlights the need for well-powered genetic and functional
studies on Leishmania braziliensis infection as essential to define and
validate the role of host genes in determining
resistance/susceptibility regarding this disease.